MGY250 Unit 5 - Complex Disorders Exam Questions with Correct Answers Latest Update
2025/2026
Define case - Answers Affected individuals
Define controls - Answers Non-affected individuals
Case control studies - Answers Pair affected individuals with non-affected, matched according
to environment exposure, occupation, geographical location. Ideally only difference should be
disease presence. Compare extended families of both affected/non affected
Odds ratio - Answers Odds individual with a specific variant develops disease
Odds ratio calculation - Answers Ratio between
= odds of being affected with variant present : odds of being affected with NO variant present
Odds of being affected with variant present calculation - Answers Number of cases with variant
/ Number of controls with variant
High odds ratio indicates.. - Answers very likely that the variant's presence indicates disease
Sources of bias in twin studies - Answers Shared environment for siblings
Ascertainment bias
Recall bias
Odds of being affected with NO variant present calculation - Answers Number of cases without
variant / Number of controls without variant
Shared environment for siblings - Answers May lead to overestimate of heritability of trait
Ascertainment bias - Answers Families with more than one affected sibling are more likely to
come under attention of researcher
Recall bias - Answers Unrealistic to examine all relatives directly, may have to rely on anecdotal
memories
Purpose and utility of whole genome sequencing - Answers WGS provides full information
regarding any mutations
When to use WGS/WES - Answers WGS is more informative, locates all mutations
WES: cheaper and quicker
Genetic modifier that is impacting a disease - Answers EX: Different MBL expression affects
mucus production and microbe destruction in lungs
2025/2026
Define case - Answers Affected individuals
Define controls - Answers Non-affected individuals
Case control studies - Answers Pair affected individuals with non-affected, matched according
to environment exposure, occupation, geographical location. Ideally only difference should be
disease presence. Compare extended families of both affected/non affected
Odds ratio - Answers Odds individual with a specific variant develops disease
Odds ratio calculation - Answers Ratio between
= odds of being affected with variant present : odds of being affected with NO variant present
Odds of being affected with variant present calculation - Answers Number of cases with variant
/ Number of controls with variant
High odds ratio indicates.. - Answers very likely that the variant's presence indicates disease
Sources of bias in twin studies - Answers Shared environment for siblings
Ascertainment bias
Recall bias
Odds of being affected with NO variant present calculation - Answers Number of cases without
variant / Number of controls without variant
Shared environment for siblings - Answers May lead to overestimate of heritability of trait
Ascertainment bias - Answers Families with more than one affected sibling are more likely to
come under attention of researcher
Recall bias - Answers Unrealistic to examine all relatives directly, may have to rely on anecdotal
memories
Purpose and utility of whole genome sequencing - Answers WGS provides full information
regarding any mutations
When to use WGS/WES - Answers WGS is more informative, locates all mutations
WES: cheaper and quicker
Genetic modifier that is impacting a disease - Answers EX: Different MBL expression affects
mucus production and microbe destruction in lungs
